文档介绍：13 线粒体疾病 mitochondrial diseases
Mutations (changes) in the mitochondrial chromosome are responsible for a number of disorders.
Mitochondrial disease is a chronic, ic disorder that occurs when the mitochondria of the cell fails to produce enough energy for cell an function.
The incidence about 1:3000-4000 individuals in the US.   This is similar to the incidence of cystic fibrosis of caucasian births in the .
There are many forms of mitochondrial disease. Mitochondrial disease presents very differently from individual to individual.
Mitochondrial disease is inherited in a number of different ways.
There may be one individual in a family or many individuals affected over a number of generations.
1. Biochemical & ic abnormalities of mitochondrial function
(1) Mitochondrial substrate transport   (2) Substrate utilization (3) Citric acid (TCA) cycle   (4) Oxidation-Phosphorylation coupling   (5) Respiratory chain   (6) Lipid membrane defect: (7) Nuclear gene defects
(1) Mitochondrial substrate transport
  ATP/ADP translocator deficiency     ATPase deficiency   Carnitine-acylcarnitine translocase deficiency   Carnitine deficiency       Primary deficiency       Secondary deficiency   Carnitine palmitoyl transferase   Protein import defects   Solute carriers
(2) Substrate utilization
  Pyruvate disorders   β-oxidation defects (Fatty acid)   Ketone synthesis     HMG-CoA lyase     HMG-CoA synthase
(3) Citric acid (TCA) cycle
  Aconitase deficiency   Lipoamide dehydrogenase   Fumarase deficiency